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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CPSF1 Gene

protein-coding   GIFtS: 60
GCID: GC08M145618

Cleavage And Polyadenylation Specific Factor 1, 160kDa

(Previous names: cleavage and polyadenylation specific factor 1, 160kD subunit)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cleavage And Polyadenylation Specific Factor 1, 160kDa1 2     HSU370122
Cleavage And Polyadenylation Specificity Factor 160 KDa Subunit2 3     P/cl.182
CPSF1602 3     Cleavage And Polyadenylation Specificity Factor Subunit 12
CPSF 160 KDa Subunit2 3     Polyadenylation Specificity Factor2
Cleavage And Polyadenylation Specific Factor 1, 160kD Subunit1     

External Ids:    HGNC: 23241   Entrez Gene: 298942   Ensembl: ENSG000000718947   OMIM: 6060275   UniProtKB: Q105703   

Export aliases for CPSF1 gene to outside databases

Previous GC identifers: GC08M143221 GC08M145623 GC08M145223 GC08M145589 GC08M140731


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CPSF1 Gene:
Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in
3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other
proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex
(Murthy and Manley, 1995 (PubMed 7590244)).(supplied by OMIM, Mar 2008)

GeneCards Summary for CPSF1 Gene: 
CPSF1 (cleavage and polyadenylation specific factor 1, 160kDa) is a protein-coding gene. Diseases associated with CPSF1 include influenza, and anemia, and among its related super-pathways are mRNA Processing and Post-Elongation Processing of Intron-Containing pre-mRNA. GO annotations related to this gene include protein binding and mRNA 3'-UTR binding.

UniProtKB/Swiss-Prot: CPSF1_HUMAN, Q10570
Function: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in
pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and
other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step
of the polyadenylation reaction

Gene Wiki entry for CPSF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_037704.5  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CPSF1 gene promoter:
         AhR   Brachyury   NRSF form 1   Lmo2   NRSF form 2   Arnt   c-Ets-1   GATA-1   CP2   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPSF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CPSF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPSF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.23   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24

CPSF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPSF1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M145618:  view genomic region     (about GC identifiers)

Start:
145,618,444 bp from pter      End:
145,634,753 bp from pter
Size:
16,310 bases      Orientation:
minus strand

1 alternative location:
Chr8-,NW_003315924 162,490-178,608     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CPSF1_HUMAN, Q10570 (See protein sequence)
Recommended Name: Cleavage and polyadenylation specificity factor subunit 1  
Size: 1443 amino acids; 160884 Da
Subunit: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1,
CPSF2, CPSF3, CPSF4 and FIP1L1. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with FIP1L1,
PAPD4/GLD2 and SRRM1. Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF
complex on the 3'UTR of selected pre-mRNAs
Subcellular location: Nucleus, nucleoplasm
Secondary accessions: Q96AF0

Explore the universe of human proteins at neXtProt for CPSF1: NX_Q10570

Explore proteomics data for CPSF1 at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q10570

  • CPSF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPSF1 Protein Expression
    REFSEQ proteins: NP_037423.2  
    ENSEMBL proteins: 
     ENSP00000339353   ENSP00000435761  
    Reactome Protein details: Q10570
    Human Recombinant Protein Products for CPSF1: 
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    Novus Biologicals CPSF1 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CPSF1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005847mRNA cleavage and polyadenylation specificity factor complex IDA--

    CPSF1 for ontologies           About GeneDecksing



    CPSF1 Antibody Products: 
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    Assay Products for CPSF1: 
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    Cloud-Clone Corp. ELISAs for CPSF1 
    Cloud-Clone Corp. CLIAs for CPSF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004871 Cleavage/polyA-sp_fac_asu_C

    Graphical View of Domain Structure for InterPro Entry Q10570

    ProtoNet protein and cluster: Q10570

    1 Blocks protein domain: IPB004871 CPSF A subunit C-terminal

    UniProtKB/Swiss-Prot: CPSF1_HUMAN, Q10570
    Similarity: Belongs to the CPSF1 family


    CPSF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CPSF1_HUMAN, Q10570
    Function: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in
    pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and
    other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step
    of the polyadenylation reaction

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003730mRNA 3'-UTR binding IDA7590244
    GO:0005515protein binding IPI--
         
    CPSF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CPSF1:
     Decreased viability  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CPSF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CPSF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPSF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPSF1 

    miRNA
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    miRTarBase miRNAs that target CPSF1:
    hsa-mir-197 (MIRT004179)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CPSF1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPSF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CPSF1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing0.82
    mRNA Processing0.85
    mRNA processing0.46
    mRNA Splicing - Major Pathway0.82
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.79
    Post-Elongation Processing of the Transcript0.79
    Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    mRNA 3'-end processing0.79
    Cleavage of Growing Transcript in the Termination Region 0.79
    3Post-Elongation Processing of Intronless pre-mRNA
    Post-Elongation Processing of Intronless pre-mRNA0.61
    Processing of Capped Intronless Pre-mRNA0.61
    Processing of Intronless Pre-mRNAs0.61
    4Transport of Mature mRNA Derived from an Intronless Transcript
    Transport of Mature mRNAs Derived from Intronless Transcripts0.89
    Transport of Mature mRNA Derived from an Intronless Transcript0.89
    5Transcription
    Transcription0.69
    RNA Polymerase II Transcription0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CPSF1
        mRNA processing

    5/18        Reactome Pathways for CPSF1 (see all 18)
        Transport of Mature Transcript to Cytoplasm
    mRNA Splicing
    Transport of Mature mRNA Derived from an Intronless Transcript
    RNA Polymerase II Transcription
    Cleavage of Growing Transcript in the Termination Region


    1         Kegg Pathway  (Kegg details for CPSF1):
        mRNA surveillance pathway


    CPSF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CPSF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/730 Interacting proteins for CPSF1 (Q105702, 3 ENSP000003393534) via UniProtKB, MINT, STRING, and/or I2D (see all 730)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006378mRNA polyadenylation IDA7590244
    GO:0006379mRNA cleavage IDA7590244

    CPSF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CPSF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPSF1

    2 Novoseek inferred chemical compound relationships for CPSF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 63.8 10 14749727 (2), 10733568 (1), 17127772 (1), 8627681 (1) (see all 7)
    zinc 21.2 1 16115198 (1)

    Search CenterWatch for drugs/clinical trials and news about CPSF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CPSF1 gene: 
    NM_013291.2  

    Unigene Cluster for CPSF1:

    Cleavage and polyadenylation specific factor 1, 160kDa
    Hs.493202  [show with all ESTs]
    Unigene Representative Sequence: NM_013291
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531480 ENST00000531727 ENST00000349769(uc011lld.1 uc011llf.1 uc011lle.1 uc003zcj.3 uc003zcl.1)
    ENST00000532725 ENST00000526271 ENST00000532935 ENST00000529288 ENST00000527827
    ENST00000527916 ENST00000533492 ENST00000532560 ENST00000531683(uc003zck.1)
    ENST00000531042
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPSF1
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    Additional mRNA sequence: 

    AB046744.1 AK293601.1 BC009954.2 BC017232.2 BC028197.1 U37012.1 

    15 DOTS entries:

    DT.447161  DT.100842072  DT.95154623  DT.117812  DT.95154635  DT.100059385  DT.99973247  DT.95243271 
    DT.100802272  DT.101973407  DT.75133702  DT.100719573  DT.91762660  DT.86848897  DT.91762651 

    24/347 AceView cDNA sequences (see all 347):

    AW137721 BM702063 AW950057 BM793404 AI814533 BQ417498 BI819278 BM820487 
    CA427621 BI093192 AB046744 BM563740 AW134799 AA463948 C20753 BM769799 
    AI091982 BQ183083 BU956015 BI909433 AI278258 BP365022 BI116073 AI870798 

    GeneLoc Exon Structure

    5/30 Alternative Splicing Database (ASD) splice patterns (SP) for CPSF1 (see all 30)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c · 25d · 25e ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b · 32c ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                      -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                      -                     

    ExUns: 33a · 33b ^ 34 ^ 35a · 35b ^ 36a · 36b · 36c ^ 37a · 37b · 37c · 37d · 37e ^ 38 ^ 39 ^ 40a · 40b · 40c ^ 41a · 41b · 41c ^ 42a · 42b ^ 43
    SP1:                                                                                                                                                
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                
    SP4:                                                                                            -                                                   
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for CPSF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPSF1 expression in normal human tissues (normalized intensities)      CPSF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCGCAGCG
    CPSF1 Expression
    About this image


    CPSF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad

    See CPSF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPSF1

    SOURCE GeneReport for Unigene cluster: Hs.493202
        SABiosciences Custom PCR Arrays for CPSF1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CPSF1 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpsf11 , 5 cleavage and polyadenylation specific factor 11, 5 87.65(n)1
    96.67(a)1
      15 (36.13 cM)5
    942301  NM_053193.21  NP_444423.11 
     765958095 
    lizard
    (Anolis carolinensis)
    Reptilia CPSF16
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343636.1(12442-95391)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3989312 hypothetical protein LOC398931 83.91(n)    BC060475.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb24c012 Transcribed sequence with moderate similarity to protein more 79.52(n)    CK026521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cpsf3
    Cpsf1601
    mRNA cleavage mRNA binding3
    Cleavage and polyadenylation specificity factor 16 more1
    45(a)3
    52.53(n)1
    48.01(a)1
      51A43
    442501  NM_206111.11  NP_995833.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y76B12C.73
    cpsf-11
    Protein CPSF-11 31(a)3
    44.13(n)1
    34.93(a)1
      IV(2009159-2032997)3
    1770031  NM_067756.31  NP_500157.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CFT1(YDR301W)4
    CFT11
    RNA-binding subunit of the mRNA cleavage and polyadenylation more4
    Cft1p1
    38.77(n)1
    25.71(a)1
      4(1063352-1067425)4
    8518951, 4  NP_010587.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CPSF1601 cleavage and polyadenylation specificity factor subunit more 44.54(n)
    36.16(a)
      835240  NM_124545.2  NP_199979.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g02522001 hypothetical protein 44.44(n)
    38.1(a)
      9266269  NM_001186884.1  NP_001173813.1 


    ENSEMBL Gene Tree for CPSF1 (if available)
    TreeFam Gene Tree for CPSF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CPSF1 gene
    1 SIMAP similar gene for CPSF1 using alignment to 3 protein entries:     CPSF1_HUMAN (see all proteins):
    P/cl.18

    CPSF1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CPSF1
    PGOHUM00000246572 PGOHUM00000241293


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/385 SNPs in CPSF1 are shown (see all 385)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1122571111,2
    C--145619405(+) GCCCCA/GGCCAC 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1407596231,2
    --145621461(+) TCCTGG/TTCCTC 1 -- int10--------
    rs22808361,2
    C,F,A,H--145621556(-) TGGGGC/TCCGGC 1 -- int129Minor allele frequency- T:0.36EA NA NS WA CSA 3941
    rs1446058381,2
    C,F--145621587(+) AAGCCG/ACGGGG 2 /R syn12Minor allele frequency- A:0.00NA EU 3265
    rs737178231,2
    C,F--145621617(+) GGAGCG/AAAAGA 2 /F syn12Minor allele frequency- A:0.00WA NA 3256
    rs2020016091,2
    --145621625(+) AGAGTC/TGACCG 2 N D mis10--------
    rs1459473641,2
    C--145621648(+) CCATGG/AGGTGT 2 /P /L mis11Minor allele frequency- A:0.00NA 3064
    rs1385884951,2
    C,F--145621728(+) CAGGCA/GCCGTG 1 -- int11Minor allele frequency- G:0.00EU 713
    rs3721382141,2
    C--145621750(+) GATGAA/GGATGC 1 -- int10--------
    rs1416812601,2
    C--145621759(+) GCTGCA/GGATGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CPSF1 (145618444 - 145634753 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for CPSF1 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738063CNV Deletion23290073
    esv2738064CNV Deletion23290073
    dgv7966n71CNV Loss21882294
    nsv891841CNV Loss21882294
    nsv891846CNV Loss21882294
    nsv891817CNV Loss21882294
    dgv7967n71CNV Loss21882294
    nsv891807CNV Loss21882294
    nsv891873CNV Loss21882294
    dgv7970n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606027    OMIM disorders: --

    5 diseases for CPSF1:    About MalaCards
    influenza    anemia    prostate cancer    prostatitis
    neuronitis


    CPSF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    2 Novoseek inferred disease relationships for CPSF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    equine infectious anemia 63 1 8756653 (1)
    immunodeficiency 11.7 1 8756653 (1)


    Export disorders for CPSF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CPSF1 gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with CPSF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The 160-kD subunit of human cleavage-polyadenylation specificity factor coordinates pre-mRNA 3'-end formation. (PubMed id 7590244)1, 2, 3 Murthy K.G. and Manley J.L. (1995)
    2. Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements and stimulates poly(A) polymerase. (PubMed id 14749727)1, 2, 9 Kaufmann I.... Keller W. (2004)
    3. The poly A polymerase Star-PAP controls 3'-end cleavage by promoting CPSF interaction and specificity toward the pre-mRNA. (PubMed id 21102410)1, 2 Laishram R.S. and Anderson R.A. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. SRm160 splicing coactivator promotes transcript 3'-end cleavage. (PubMed id 11739730)1, 2 McCracken S.... Blencowe B.J. (2002)
    6. Cloning of cDNAs encoding the 160 kDa subunit of the bovine cleavage and polyadenylation specificity factor. (PubMed id 7651824)1, 3 Jenny A. and Keller W. (1995)
    7. Assignment of the 160-kDa subunit of cleavage and polyadenylation specificity factor (CPSF1) to human chromosome 8q24.23 by radiation hybrid mapping. (PubMed id 11124521)1, 9 Samiotaki M....Tsiapalis C.M. (2000)
    8. The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors. (PubMed id 19136632)1, 9 Rozenblatt-Rosen O....Meyerson M. (2009)
    9. Cleavage and polyadenylation specificity factor (CPSF)-derived peptides can induce HLA-A2-restricted and tumor-specific CTLs in the majority of gastrointestinal cancer patients. (PubMed id 11992410)1, 9 Maeda Y....Itoh K. (2002)
    10. The RNA 3' cleavage factors CstF 64 kDa and CPSF 100 kDa are concentrated in nuclear domains closely associated with coiled bodies and newly synthesized RNA. (PubMed id 8654386)1, 9 Schul W....de Jong L. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29894 HGNC: 2324 AceView: CPSF1 Ensembl:ENSG00000071894 euGenes: HUgn29894
    ECgene: CPSF1 Kegg: 29894 H-InvDB: CPSF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPSF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CPSF1 gene:
    Search GeneIP for patents involving CPSF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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